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REPUB 109112-OA.Pdf CONSENSUS STATEMENT EXPERT CONSENSUS DOCUMENT Diagnosis and management of pseu do hy popar ath yroi dism and related disorders: first international Consensus Statement Giovanna Mantovani1, Murat Bastepe2,47, David Monk3,47, Luisa de Sanctis4,47, Susanne Thiele5,47, Alessia Usardi6,7,47, S. Faisal Ahmed 8, Roberto Bufo9, Timothée Choplin10, Gianpaolo De Filippo11, Guillemette Devernois10, Thomas Eggermann12, Francesca M. Elli 1, Kathleen Freson13, Aurora García Ramirez14, Emily L. Germain- Lee15,16, Lionel Groussin17,18, Neveen Hamdy19, Patrick Hanna20, Olaf Hiort5, Harald Jüppner2, Peter Kamenický6,21,22, Nina Knight23, Marie-Laure Kottler24,25, Elvire Le Norcy18,26, Beatriz Lecumberri27,28,29, Michael A. Levine30, Outi Mäkitie31, Regina Martin32, Gabriel Ángel Martos- Moreno33,34,35, Masanori Minagawa36, Philip Murray 37, Arrate Pereda38, Robert Pignolo39, Lars Rejnmark 40, Rebecca Rodado14, Anya Rothenbuhler6,7, Vrinda Saraff41, Ashley H. Shoemaker42, Eileen M. Shore43, Caroline Silve44, Serap Turan45, Philip Woods23, M. Carola Zillikens46, Guiomar Perez de Nanclares 38,48* and Agnès Linglart6,7,20,48* Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudo hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early- onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency , hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders. *e- mail: gnanclares@ osakidetza.eus; Pseu do hy popar ath yroi dism (PHP) and related dis- molecular defects that impair hormonal signalling via [email protected] orders are associated with a spectrum of abnormal receptors that are coupled, through the α-subunit of the https://doi.org/10.1038/ physical characteristics as well as neurocognitive and stimulatory G protein (Gsα), to activation of adenylyl s41574-018-0042-0 endocrine abnormalities that are caused primarily by cyclase (FIG. 1). NATURE REVIEWS | ENDOCRINOLOGY © 2018 Macmillan Publishers Limited, part of Springer Nature. All rights reserved. CONSENSUS STATEMENT The term PHP (Online Mendelian Inheritance in osteodystrophy (AHO), which includes premature clo- Man (OMIM) #103580 for PHP type 1A (PHP1A), sure of growth plates and short bones, short stature, a #603233 for PHP type 1B (PHP1B) and #612462 for stocky build, ectopic ossifications and other poorly PHP type 1C (PHP1C)) describes disorders that share defined abnormalities. In some patients, the physical common biochemical features of hypoparathyroidism features of AHO might be present in the absence of hor- (that is, hypocalcaemia and hyperphosphataemia) mone resistance. Furthermore, based on the number of that are the result of resistance of target tissues to the AHO features and the extent of ectopic ossifications, biological actions of parathyroid hormone (PTH). In patients might be classified as having pseudopseu do hy- some cases, resistance to other hormones (such as TSH, popar ath yroidism (PPHP; OMIM #612463), progressive gonadotropins, growth hormone- releasing hormone osseous heteroplasia (POH; OMIM #166350) or osteoma (GHRH) and calcitonin) that have receptors coupled cutis. PHP and PPHP were initially described by Fuller (REF.1) (REF.2) via Gsα is observed. Patients with PHP1A and PHP1C Albright and colleagues in 1942 and 1952 , are also characterized by the variable expression of a col- respectively; POH was reported more than five decades lection of physical features, termed Albright hereditary later, in 1994 (REF.3). Other features have been attributed Author addresses 1Fondazione IRCCS Ca’ Granda Ospedale Diabetes, Connecticut Children’s Medical HCFMUSP, Faculty of Medicine, University of Maggiore Policlinico, Endocrinology Unit, Center, Farmington, CT, USA. Sao Paulo, Sao Paulo, Brazil. Department of Clinical Sciences and 16Department of Pediatrics, University of 33Department of Endocrinology, Hospital Infantil Community Health, University of Milan, Connecticut School of Medicine, Farmington, Universitario Niño Jesús, CIBERobn, ISCIII, Milan, Italy. CT, USA. Madrid, Spain. 2Endocrine Unit, Department of Medicine, 17APHP, Department of Endocrinology, Cochin 34Department of Pediatrics, Autonomous Massachusetts General Hospital and Hospital (HUPC), Paris, France. University of Madrid (UAM), Madrid, Spain. Harvard Medical School, Boston, 18University of Paris Descartes, Sorbonne Paris 35Endocrine Diseases Research Group, Hospital MA, USA. Cité, Paris, France. La Princesa Institute for Health Research 3Imprinting and Cancer Group, Cancer 19Department of Medicine, Division of (IIS La Princesa), Madrid, Spain. Epigenetic and Biology Program (PEBC), Institut Endocrinology and Centre for Bone Quality, 36Division of Endocrinology, Chiba Children’s d’investigació Biomedica de Bellvitge (IDIBELL), Leiden University Medical Center, Leiden, Hospital, Chiba, Japan. Barcelona, Spain. Netherlands. 37Department of Paediatric Endocrinology, 4Pediatric Endocrinology Unit, Department of 20INSERM U1169, Bicêtre Paris Sud, Paris Royal Manchester Children’s Hospital, Public Health and Pediatric Sciences, University Sud – Paris Saclay University, Le Kremlin- Bicêtre, Manchester University NHS Foundation Trust, of Torino, Turin, Italy. France. Manchester, UK. 5Division of Pediatric Endocrinology and 21APHP, Department of Endocrinology 38Molecular (Epi)Genetics Laboratory, BioAraba Diabetes, Department of Pediatrics, University and Reproductive Diseases, Bicêtre Paris National Health Institute, Hospital Universitario of Lübeck, Lübeck, Germany. Sud Hospital (HUPS), Le Kremlin- Bicêtre, Araba- Txagorritxu, Vitoria- Gasteiz, Alava, Spain. 6APHP, Reference Center for Rare Disorders of France. 39Department of Medicine, Mayo Clinic, Calcium and Phosphate Metabolism, Platform of 22INSERM U1185, Paris Sud – Paris Saclay Rochester, MN, USA. Expertise Paris- Sud for Rare Diseases and Filière University, Le Kremlin- Bicêtre, France. 40Department of Endocrinology and Internal OSCAR, Bicêtre Paris Sud Hospital (HUPS), Le 23UK acrodysostosis patients’ group, Medicine, Aarhus University Hospital, Aarhus, Kremlin- Bicêtre, France. London, UK. Denmark. 7APHP, Endocrinology and diabetes for children, 24Department of Genetics, Reference Centre for 41Department of Endocrinology and Bicêtre Paris Sud Hospital (HUPS), Le Kremlin- Rare Disorders of Calcium and Phosphate Diabetes, Birmingham Children’s Hospital, Bicêtre, France. Metabolism, Caen University Hospital, Caen, Birmingham, UK. 8Developmental Endocrinology Research Group, France. 42Pediatric Endocrinology and Diabetes, School of Medicine, Dentistry and Nursing, 25BIOTARGEN, UNICAEN, Normandie University, Vanderbilt University Medical Center, Nashville, University of Glasgow, Glasgow, UK. Caen, France. TN, USA. 9IPOHA, Italian Progressive Osseous 26APHP, Department of Odontology, Bretonneau 43Departments of Orthopaedic Surgery and Heteroplasia Association, Cerignola, Hospital (PNVS), Paris, France. Genetics, Center for Research in FOP and Foggia, Italy. 27Department of Endocrinology and Nutrition, Related Disorders, Perelman School of Medicine, 10K20, French PHP and related disorders patient La Paz University Hospital, Madrid, Spain. University of Pennsylvania, Philadelphia, association, Jouars Pontchartrain, France. 28Department of Medicine, Autonomous PA, USA. 11APHP, Department of medicine for University of Madrid (UAM), Madrid, Spain. 44APHP, Service de Biochimie et Génétique adolescents, Bicêtre Paris Sud Hospital (HUPS), 29Endocrine Diseases Research Group, Hospital Moléculaires, Hôpital Cochin, Paris, France. Le Kremlin- Bicêtre, France. La Paz Institute for Health Research (IdiPAZ), 45Department of Pediatrics, Division of 12Institute of Human Genetics, Medical Faculty, Madrid, Spain. Endocrinology and Diabetes, Marmara RWTH Aachen University, Aachen, Germany. 30Division of Endocrinology and Diabetes and University, Istanbul, Turkey. 13Department of Cardiovascular Sciences, Center for Bone Health, Children’s Hospital of 46Department of Internal Medicine, Bone Center Center for Molecular and Vascular Biology, Philadelphia and Department of Pediatrics, Erasmus MC – University Medical Center Gasthuisberg, University of Leuven, University of Pennsylvania Perelman School of Rotterdam, Rotterdam, Netherlands.
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